OBJECTIVE: To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation. METHODS: A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (including 4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlation was analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children's Medical Center (Ethics No.: 2022-406B00). RESULTS: The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested with high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c.2668C>T; p.Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case report has associated it with this phenotypic spectrum. It was not recorded in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. CONCLUSION This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c.2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted the challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies during prenatal diagnosis. Above findings have advanced our understanding of the pleiotropic effects in type Ⅱ collagen disorders and laid the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities for high-risk families.
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Arthritis/genetics* ; Collagen Type II/genetics* ; Connective Tissue Diseases/genetics* ; Exome Sequencing ; Genetic Association Studies ; Genotype ; Hearing Loss, Sensorineural/genetics* ; Mutation ; Pedigree ; Phenotype ; Retinal Detachment/genetics* ; East Asian People/genetics*

OBJECTIVE: To explore the clinical phenotype and genetic characteristics in two children with Knobloch syndrome (KNO) due to variants of COL18A1 gene. METHODS: Two children presented at the Genetic Eye Disease Clinic of the Eye Hospital of Wenzhou Medical University in October 2023 for ocular lesions were selected as the study subjects. Relevant clinical data and peripheral venous blood samples were collected from the children and their parents. Following genomic DNA extraction, whole-exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing of the family members. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2021-212-K-185). RESULTS: Both children exhibited characteristic ocular features of KNO including nystagmus, high myopia, and leopard spot fundus. Additionally, child 1 also presented with congenital occipital bone dysplasia and occipital encephalocele, while child 2 was diagnosed with vitreoretinochoroidopathy and bilateral high myopia. WES has identified compound heterozygous variants of the COL18A1 gene in both children, including a c.3013+3A>C splice-site variant and a c.2743C>T (p.Arg915Ter) nonsense variant in child 1, and a novel c.1702-1G>A splice-site variant and a c.3836C>T (p.Ser1279Leu) missense variant in child 2. A comprehensive literature review has identified 63 domestic and international articles involving 167 patients with KNO whom can be classified into three subtypes, with KNO type I being the most common and caused by pathogenic variants in the COL18A1 gene. Both probands in this study were children with KNO type I. Analysis of the genotype-phenotype correlations and population distribution characteristics revealed that the KNO patients exhibited significant clinical and genetic heterogeneity, along with a broad geographic distribution, with a relatively greater number of cases reported in Brazil and China. and a broad geographic distribution, with the highest numbers reported in Brazil and China. While no significant difference in genotype distribution was observed between Chinese and non-Chinese patients, phenotypic disparities were noted, with the non-Chinese cohort showing significantly higher rates of retinal detachment and developmental delay (P < 0.05), whereas Chinese patients exhibited a greater proportion of macular hypoplasia (P < 0.05). CONCLUSION The main clinical manifestations of KNO include high myopia, vitreoretinal dystrophy, and occipital encephalocele. The novel c.1702-1G>A splice-site variant identified in the COL18A1 gene has expanded the mutational spectrum of KNO type I and provided valuable insights for genetic diagnosis, counseling, and clinical management of the disease.
Humans ; Retinal Detachment/congenital* ; Male ; Female ; Child ; Encephalocele/genetics* ; Exome Sequencing ; Collagen Type XVIII/genetics* ; Phenotype ; Retinal Degeneration/genetics* ; Mutation ; Child, Preschool

Humans ; Retinal Detachment/surgery* ; Myopia/surgery* ; Retrospective Studies ; Treatment Outcome

Objective: We report a case of a scleral buckle mimicking an orbital tumor 28 years after a retinal detachment repair. Methods: This is a case report. Results: A 75-year-old male consulted for progressive, painless blurred vision of the right eye. He had a history of scleral buckling surgery for retinal detachment on the right eye in 1990 that restored his vision. Examination showed right eye ophthalmoplegia and inferior displacement of the globe. Imaging revealed a right supero-temporal orbital mass. Excision of the encapsulated mass was performed. Histopathology revealed an acellular, amorphous, granular and eosinophilic material with no evidence of malignancy. These were consistent with a foreign body. Postoperatively, there were improvements in ocular motility and hypoglobus. Conclusion In patients who present with limited ocular motility and have undergone scleral buckling, hydrogel scleral buckle overexpansion should be considered. Excision of such implants is warranted to resolve the signs and symptoms and confirm the etiology.
Retinal Detachment ; Scleral Buckling

Humans ; Panuveitis/etiology* ; Retinal Detachment/etiology* ; Typhoid Fever/diagnosis* ; Visual Acuity

OBJECTIVE: To evaluate the value of fundus autofluorescence (FAF) imaging combined with spectral domain optical coherence tomography (SD-OCT) in diagnosis, prognostic assessment and follow-up observation of acute Vogt-KoyanagiHarada (VKH) disease. METHODS: Clinical data were collected from 12 patients (23 eyes) with acute VKH disease treated in our hospital from May, 2018 to November, 2019, including detailed medical history, best corrected visual acuity (BCVA), and results of slit lamp biomicroscopy, fundus photography, SD-OCT, fundus fluorescein angiography (FFA) and FAF imaging.SDOCT and FAF imaging were repeated after a course of treatment and in follow-up examination, and the results were compared with those at the time of admission. RESULTS: VKH disease involved both eyes in 11 patients (91.7%).Fundus photography showed optic disc edema in 16 eyes (69.6%), and multiple retinal neuroepithelial detachment was detected by SD-OCT in all the involved eyes (100%).IN all the eyes, FFA revealed small and dense fluorescein leakage in the early stage and fluorescein accumulation in advanced stages of VHK disease to form multiple dye pooling in the areas of serous detachment.Hyperauto fluorescence was a common finding in FAF imaging (100%), and the area involved was consistent with that of fluorescein accumulation shown by FAF imaging.Ten eyes (43.5%) showed patches of relative hypoautofluorescence in the hyperauto fl uorescence areas, and granular hyperauto fl uorescence was found in the lesions in 4 eyes (17.4%).During the remission period of VKH disease, FAF imaging showed normal finding in 8 eyes (34.8%) and reduced areas (by 55.2%) and intensity (by 46.5%) of hyperautofluorescence in 9 eyes (39.1%).In 6 eyes (26.1%), only a few hyperautofluorescent spots scattered in the macula were observed.SD-OCT demonstrated significantly reduced (by 69.5% on average) or even disappearance of subretinal fluid in the eyes.The fluorescence intensity in FAF imaging showed a significant positive correlation with the volume of subretinal fluid detected by SD-OCT ( CONCLUSIONS The combination of fluorescein angiography, FAF imaging and SD-OCT can significantly improve the diagnostic accuracy of VKH disease.FAF imaging combined with SD-OCT provides an effective and noninvasive modality for evaluation of remission and monitoring the changes in VKH disease.
Acute Disease ; Fluorescein Angiography ; Follow-Up Studies ; Humans ; Retinal Detachment/diagnostic imaging* ; Tomography, Optical Coherence ; Uveomeningoencephalitic Syndrome/diagnostic imaging*

PURPOSE: To report a case of retinal toxicity after an intravitreal ganciclovir injection to treat acute retinal necrosis in an eye filled with silicone oil.CASE SUMMARY: A 56-year-old male presented with ocular pain and visual loss in his right eye. His best-corrected visual acuity was 20/25, inflammatory cells in the anterior chamber, multiple retinitis lesions and retinal vessel occlusions in the peripheral retina and vitreous opacity were showed. Acute retinal necrosis was suspected, anterior chamber polymerase chain reaction (PCR) test was done. Aciclovir 2,400 mg/day intravenously and ganciclovir 2.0 mg were administered by intravitreal injection. After 4 days, retinitis was worsened and PCR test was positive for varicella zoster virus. Ganciclovir intravitreal injections were increased twice a week. After 16 days, retinal detachment occurred, so scleral encircling, vitrectomy, laser photocoagulation, and silicone oil tamponade were conducted. Ganciclovir 1.0 mg was injected at the end of surgery. The patient's visual acuity decreased to hand motion, and multiple crystal deposits with multiple retinal hemorrhages were observed in the right eye the next day. Visual acuity did not recover and optical coherent tomography showed that the macula was thinned.CONCLUSIONS: Visual loss seemed to be related with the retinal toxicity of ganciclovir. The increased local concentration due to the silicone oil tamponade is thought to have caused the toxicity.
Acyclovir ; Anterior Chamber ; Ganciclovir ; Hand ; Herpesvirus 3, Human ; Humans ; Intravitreal Injections ; Light Coagulation ; Male ; Middle Aged ; Polymerase Chain Reaction ; Retina ; Retinal Detachment ; Retinal Hemorrhage ; Retinal Necrosis Syndrome, Acute ; Retinal Vessels ; Retinaldehyde ; Retinitis ; Silicon ; Silicones ; Visual Acuity ; Vitrectomy

PURPOSE: We investigated the long-term outcomes of vitrectomy with internal limiting membrane (ILM) peeling as treatment for myopic traction maculopathy (MTM).METHODS: The medical records of patients who underwent vitrectomy to treat MTM were retrospectively evaluated. We excluded patients who exhibited macular holes (MHs) or retinal detachment at the time of primary surgery. The best-corrected visual acuity (BCVA) and central foveal thickness (CFT) were analyzed preoperatively, at 3, 6, 12, and 24 months after surgery, and at the final visit. Complications including retinal detachment or an MH were noted during follow-up.RESULTS: Twenty-three eyes of 22 patients were enrolled. At the time of primary surgery, the mean patient age was 64.4 ± 11.1 years and the baseline mean logMAR BCVA and CFT, 0.67 ± 0.50 and 431.8 ± 159.5 µm, respectively. The mean follow-up period was 53.7 ± 19.3 months. The mean logMAR BCVAs at 3, 6, 12, and 24 months postoperatively and at the final visit were 0.42 ± 0.39 (p = 0.001), 0.41 ± 0.38 (p = 0.001), 0.39 ± 0.40 (p < 0.001), 0.42 ± 0.43 (p < 0.001), and 0.51 ± 0.47 (p = 0.016), respectively, thus significantly better than the baseline value. The mean CFT at 3, 6, 12, and 24 months postoperatively and at the final visit were 244.6 ± 72.3, 210.5 ± 79.1, 209.6 ± 91.6, 219.8 ± 93.9, and 217.7 ± 81.3 µm, respectively, thus significantly less than baseline (all p < 0.001). MTM resolved in 18 eyes (78.3%) after primary surgery, without any complication, and remained stable to the final visit.CONCLUSIONS: Vitrectomy with ILM peeling afforded favorable long-term efficacy and safety in MTM patients.
Follow-Up Studies ; Humans ; Medical Records ; Membranes ; Myopia, Degenerative ; Prognosis ; Retinal Detachment ; Retinal Perforations ; Retinoschisis ; Retrospective Studies ; Traction ; Visual Acuity ; Vitrectomy

PURPOSE: To evaluate the changes of axial length (AXL) in eyes with unilateral idiopathic central serous chorioretinopathy (CSC) after resolution of serous retinal detachment. METHODS: A total of 31 patients diagnosed with idiopathic unilateral CSC were included in this study. The changes of AXL according to serous retinal detachment were examined. The keratometric value and AXL were measured using partial coherence interferometry. Serous retinal detachment and central macular thickness (CMT) were measured by spectral domain optical coherence tomography. RESULTS: The mean age of the 31 CSC patients, including 19 males, was 42.7 years. The AXL was significantly increased from 23.41 to 23.58 mm after resolution of serous retinal detachment (p < 0.001). The CMT was significantly decreased from 413.4 to 226.8 µm after resolution of serous retinal detachment (p < 0.001). The differences in AXL correlated with CMT differences and subretinal fluid height (r = −0.616, p < 0.001 and r = −0.637, p < 0.001, respectively), and the best-corrected visual acuity was significantly different after resolution of serous retinal detachment (p < 0.001). CONCLUSIONS: In unilateral idiopathic CSC with serous retinal detachment, a shortened AXL in the acute phase was restored after resolution of serous retinal detachment.
Central Serous Chorioretinopathy ; Humans ; Interferometry ; Male ; Retinal Detachment ; Retinaldehyde ; Subretinal Fluid ; Tomography, Optical Coherence ; Visual Acuity

No abstract available.
Humans ; Child ; Retinal Detachment